Newly Diagnosed

Newly Diagnosed

Our newborn was just diagnosed with ALD. What do we do and what should my pediatrician know?

Your baby should start getting his MRI, by the age of 1, to establish a baseline. MRI’s should continue to be taken every 6 months.

It is very important to have these MRI’s reviewed by an ALD specialist. Unfortunately, because ALD is a rare disease, the local neurologist may not have enough experience to notice the slight changes to an ALD patient’s MRI and ALD patients do not have the time for misdiagnosis. Six months can be the difference between life or death. Please contact Dr. Gerald Raymond Pediatric Neurologist, Specializing in ALD for a 2nd opinion on your MRI. Click here to contact Dr. Raymond.

Babies should have ACTH and Cortisol checked every 3 months from 3 months of age on. If adrenal insufficiency is diagnosed, it should be managed with a daily steroid and a stress dose whenever needed.

Starting at 2 years of age the baby should have an annual workup; including, ophthalmologic exam and visual fields.

A child in our family was just diagnosed with ALD. What are the first things we should do?

Get a magnetic resonance imaging (MRI) scan of the child’s brain. This will tell you the extent of the progression of the disease, and determine next steps. It will also provide a baseline for you and physicians to use to compare with future MRI scans, which are generally performed at 6 month intervals.

Have your child tested for adrenal insufficiency (Addison’s disease). The test for adrenal insufficiency is done by a pediatric endocrinologist. Addison’s disease is generally associated with ALD. The adrenal glands produce a variety of hormones that control levels of sugar, sodium, and potassium in the body, and help it respond to stress. In Addison’s disease, the body produces insufficient levels of the adrenal hormone, which can be life-threatening. Fortunately, this aspect of ALD is easily treated, simply by taking a steroid pill daily (and adjusting the dose in times of stress or illness).

Consider limiting your child’s fat intake to no more than 30% of his daily diet. This is easily done by limiting red meats and using low-fat substitutes for things like milk and butter.

If your child already has symptoms, the approved treatment for ALD is a stem cell transplant, using either stem cells derived from bone marrow or from umbilical cord blood (UCB). If done early enough, this treatment has been found to stop the neural degeneration. However, both types of transplantation are risky procedures that can also be life-threatening. Research shows that this treatment has its best chance of success when the child has no more than one diagnosed neurological deficits, and a Loes score of 9 or lower.

A clinical trial for gene therapy is currently being administered through bluebird bio. Though currently under the early stages, gene therapy is thought to be a safer method of treatment, as the child’s own cells are being used, so no need to find a match in the bone marrow registry and no chance of rejection or the use of anti-rejection medications. For more information, click here.

What is a Loes Score?

Please see a physician with extensive ALD experience who will be the best qualified healthcare provider to determine the Loes scale. The Loes score is a rating of the severity of abnormalities in the brain found on MRI. It ranges from 0 to 34, based on a point system derived from the location and extent of disease and the presence of atrophy in the brain, either localized to specific points or generally throughout the brain. A Loes score of 0.5 or less is classified as normal, while a Loes score of 14 or greater is considered severe.

It was developed by neuroradiologist Daniel J. Loes of the University of Minnesota, and is an important tool in assessing disease progression and the effectiveness of therapy. For example, even if your child shows no noticeable symptoms, if the Loes score deteriorates by more than one scale point with each six-month MRI exam, some specialists will recommend that you consider a stem cell transplant or gene therapy.

Contact a Specialist

If you or someone you know has been diagnosed with ALD, AMN, or another leukodystrophy and would like information regarding treatment options, we recommend contacting:

Ian Duncan, Ph.D.University of Wisconsin, Madison, USA.“Roles of Microgliamacrophages and their therapeutic use in combination with lentiviral gene transfer in Krabbe’s Disease”duncani@svm.vetmed.wisc.edu

The European Union

AUSTRIA

Johannes Berger, Ph.D.Medical University of AustriaCo-ordinator of the Community Research and Development Information Service’s (CORDIS’s) Integrated project to decipher the biological function of peroxisomes in health and disease. Contact details: johannes.berger@meduniwien.ac.uk

Dr. Wolfgang BruckProfessor of NeuropathologyUniversity of Göttingen, GERMANY Dr. Brück has been studying the immunopathology of MS lesions in attempts to unravel the mechanisms behind endogenous remyelination. It appears that in MS lesions, sufficient myelin-forming precursor cells are present but they do not differentiate into mature cells. wbrueck@med.uni-goettingen.de

ITALY

Anna Maria Cimini, Ph.DDepartment of Basic and Applied Biology, University of L’AquilaResearch includes Neurobiology and gene and cell therapy.Contact details: cimini@univaq.it

Additional Resources

Naturally, people often do not know what to do next after they or a loved one receives an ALD diagnosis. The following guide is intended to help.

Step 1: Is the diagnosis correct?

There are two essential lab tests to confirm ALD:
1. Elevated very long chain fatty acids (VLCFAs)
2. Abnormality in the ABCD1 gene

VLCFAs may also be increased in a few disorders other than ALD (and because they may not be elevated in some women with ALD), gene testing is very important to confirm the diagnosis.

An ALD diagnosis is not an automatic death sentence. There are many non-fatal forms of the disease and therapies for those that are. But it is important to put the right medical team in place and follow certain care guidelines.

Step 2: What do I do next?

1. Make an appointment to talk to your primary care doctor about the diagnosis right away.
2. Work with your primary care doctor to get a prompt referral to see these three specialists: (1) a neurologist; (2) an endocrinologist; and (3) a geneticist.
3. Provide your medical team with the widely accepted ALD care guidelines found here: www.ojrd.com/content/7/1/51
4. Make sure you and each member of the medical team have a clear understanding of who is in charge of what.
5. Promptly begin working through the care decision tree found in the published care guidelines.
6. Educate yourself & your family about ALD.

Symptoms of ALD are highly variable and can occur in any affected individual at any age. For this reason it is important to follow up with a health professional who is knowledgeable about ALD as soon as possible. There is much that can be done to improve outcomes in people with ALD. For example, affected boys must be followed closely to ensure that treatment of symptoms is initiated in a timely fashion in order to maximize its likelihood of success.

Step 3: Who else needs to know about this?

Your medical team of specialists needs to have a clear understanding of their roles in your treatment. They need to know your treatment plan and where each of them falls into it.

Educating your family about ALD will allow them to better understand what you are going through and how best to provide support.

Other family members outside of your immediate family should be told of the ALD diagnosis because it is important that they be tested for the ALD gene mutation as well. Because the defective gene may be passed down from generation to generation, family testing often identifies other members as patients. Testing also empowers family members who may be considering having children.

Step 4: What treatments are available?

Here is a brief list of current medical therapies to discuss with your medical team:
For asymptomagtic boys age 3-10 years
• Lorenzo’s Oil
For adrenal insufficiency (if diagnosed by an endocrinologist)
• Daily oral steroids
For cerebral ALD
• Prompt evaluation for BMT (Bone Marrow Transplant)
For AMN
• Rehab therapy
• Symptomatic medications for pain and stiffness
• Diet and Exercise
• Clinical trials are forming and will be enrolling soon

Step 5: How can I help others affected by ALD?

You can help those affected by ALD through education and sharing accurate information about the disease with the public and your medical team. You can participate in a clinical trial and ALD Connect’s [Patient Portal] so the research community can better understand the disease.